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Page 1
Dystrophinopathy Phenotypes and Modifying Factors in DMD Exon 45-55 Deletion.
Poyatos-García J, Martí P, Liquori A, Muelas N, Pitarch I, Martinez-Dolz L, Rodríguez B, Gonzalez-Quereda L, Damiá M, Aller E, Selva-Gimenez M, Vilchez R, Diaz-Manera J, Alonso-Pérez J, Barcena JE, Jauregui A, Gámez J, Aladrén JA, Fernández A, Montolio M, Azorin I, Hervas D, Casasús A, Nieto M, Gallano P, Sevilla T, Vilchez JJ. Poyatos-García J, et al. Ann Neurol. 2022 Nov;92(5):793-806. doi: 10.1002/ana.26461. Epub 2022 Sep 7. Ann Neurol. 2022. PMID: 35897138 Free PMC article.
Trunk muscle involvement in late-onset Pompe disease: study of thirty patients.
Alejaldre A, Díaz-Manera J, Ravaglia S, Tibaldi EC, D'Amore F, Morís G, Muelas N, Vílchez JJ, García-Medina A, Usón M, Martínez García FA, Illa I, Pichiecchio A. Alejaldre A, et al. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S148-54. doi: 10.1016/j.nmd.2012.05.011. Neuromuscul Disord. 2012. PMID: 22980766
Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
Díaz-Manera J, Alejaldre A, González L, Olivé M, Gómez-Andrés D, Muelas N, Vílchez JJ, Llauger J, Carbonell P, Márquez-Infante C, Fernández-Torrón R, Poza JJ, López de Munáin A, González-Quereda L, Mirabet S, Clarimon J, Gallano P, Rojas-García R, Gallardo E, Illa I. Díaz-Manera J, et al. Neuromuscul Disord. 2016 Jan;26(1):33-40. doi: 10.1016/j.nmd.2015.10.001. Epub 2015 Oct 22. Neuromuscul Disord. 2016. PMID: 26573435
The impact of rituximab infusion protocol on the long-term outcome in anti-MuSK myasthenia gravis.
Cortés-Vicente E, Rojas-Garcia R, Díaz-Manera J, Querol L, Casasnovas C, Guerrero-Sola A, Muñoz-Blanco JL, Bárcena-Llona JE, Márquez-Infante C, Pardo J, Martínez-Fernández EM, Usón M, Oliva-Nacarino P, Sevilla T, Illa I. Cortés-Vicente E, et al. Ann Clin Transl Neurol. 2018 Apr 14;5(6):710-716. doi: 10.1002/acn3.564. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928654 Free PMC article.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C. Cabrera-Serrano M, et al. Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27. Neurology. 2018. PMID: 29950440 Free PMC article.
Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.
Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J. Alonso-Jimenez A, et al. J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8. J Neurol Neurosurg Psychiatry. 2019. PMID: 30530568
Antibodies against nodo-paranodal proteins are not present in genetic neuropathies.
Martín-Aguilar L, Pascual-Goñi E, Lleixà C, Frasquet M, Argente H, Cano-Abascal A, Diaz-Manera J, Cortés-Vicente E, Pelayo-Negro AL, Sevilla T, Rojas-García R, Querol L. Martín-Aguilar L, et al. Neurology. 2020 Jul 28;95(4):e427-e433. doi: 10.1212/WNL.0000000000009189. Epub 2020 Feb 26. Neurology. 2020. PMID: 32102977
Thrombospondin-1 mediates muscle damage in brachio-cervical inflammatory myopathy and systemic sclerosis.
Suárez-Calvet X, Alonso-Pérez J, Castellví I, Carrasco-Rozas A, Fernández-Simón E, Zamora C, Martínez-Martínez L, Alonso-Jiménez A, Rojas-García R, Turón J, Querol L, de Luna N, Milena-Millan A, Corominas H, Castillo D, Cortés-Vicente E, Illa I, Gallardo E, Díaz-Manera J. Suárez-Calvet X, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Mar 6;7(3):e694. doi: 10.1212/NXI.0000000000000694. Print 2020 May. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 32144182 Free PMC article.
211 results